Clinical features and prognosis of high hyperdiploid childhood acute lymphoblastic leukemia: a multicenter retrospective analysis in Fujian Province, China / 中国当代儿科杂志

OBJECTIVES@#To study the clinical features and prognosis of high hyperdiploid (HHD) childhood acute lymphoblastic leukemia (ALL).@*METHODS@#A retrospective analysis was performed on the medical data of 1 414 children who were newly diagnosed with ALL and were admitted to five hospitals in Fujian Province of China from April 2011 to December 2020. According to karyotype, they were divided into two groups: HHD (n=172) and non-HHD (n=1 242). The clinical features and treatment outcome were compared between the two groups, and the factors influencing the prognosis were further explored.@*RESULTS@#Among the 1 414 children with ALL, 172 (12.16%) had HHD. Compared with the non-HHD group, the HHD group had significantly lower proportions of children with risk factors for poor prognosis at diagnosis (age of onset ≥10 years or <1 year, white blood cell count ≥50×109/L, and T-cell phenotype) or positive fusion genes (TEL-AML1, BCR-ABL1, E2A-PBX1, and MLL gene rearrangement) (P<0.05). The HHD group had a significantly higher proportion of children with minimal residual disease (MRD) <0.01% at the end of induction chemotherapy (P<0.05). The 10-year event-free survival (EFS) rate and overall survival (OS) rate in the HHD group were significantly higher than those in the non-HHD group (P<0.05). The univariate analysis showed that the number of chromosomes of 58-66, trisomy of chromosome 10, trisomy of chromosome 17, bone marrow MRD <1% on day 15 or 19 of induction chemotherapy, and bone marrow MRD <0.01% on day 33 or 46 of induction chemotherapy were associated with a higher EFS rate (P<0.05), and trisomy of chromosome 10 was associated with a higher OS rate (P<0.05). The multivariate Cox analysis showed that trisomy of chromosome 17 was closely associated with a high EFS rate (P<0.05).@*CONCLUSIONS@#The ALL children with HHD have few risk factors for poor prognosis at diagnosis and often have good prognosis. The number of chromosomes and trisomy of specific chromosomes are associated with prognosis in these children.

Mechanistic insights into the interaction of cardiac sodium channel Nav1.5 with MOG1 and a new molecular mechanism for Brugada syndrome.

BACKGROUND: Mutations in cardiac sodium channel Nav1.5 cause Brugada syndrome (BrS). MOG1 is a chaperone that binds to Nav1.5, facilitates Nav1.5 trafficking to the cell surface, and enhances the amplitude of sodium current INa. OBJECTIVE: The purpose of this study was to identify structural elements involved in MOG1-Nav1.5 interaction and their relevance to the pathogenesis of BrS. METHODS: Systematic analyses of large deletions, microdeletions, and point mutations, and glutathione S-transferases pull-down, co-immunoprecipitation, cell surface protein quantification, and patch-clamping of INa were performed. RESULTS: Large deletion analysis defined the MOG1-Nav1.5 interaction domain to amino acids S476-H585 of Nav1.5 Loop I connecting transmembrane domains I and II. Microdeletion and point mutation analyses further defined the domain to F530T531F532R533R534R535. Mutations F530A, F532A, R533A, and R534A, but not T531A and R535A, significantly reduced MOG1-Nav1.5 interaction and eliminated MOG1-enhanced INa. Mutagenesis analysis identified D24, E36, D44, E53, and E101A of MOG1 as critical residues for interaction with Nav1.5 Loop I. We then characterized 3 mutations at the MOG1-Nav1.5 interaction domain: p.F530V, p.F532C, and p.R535Q reported from patients with long QT syndrome and BrS. We found that p.F532C reduced MOG1-Nav1.5 interaction and eliminated MOG1 function on INa; p.R535Q is also a loss-of-function mutation that reduces INa amplitude in a MOG1-independent manner, whereas p.F530V is benign as it does not have an apparent effect on MOG1 and INa. CONCLUSION: Our findings define the MOG1-Nav1.5 interaction domain to a 5-amino-acid motif of F530T531F532R533R534 in Loop I. Mutation p.F532C associated with BrS abolishes Nav1.5 interaction with MOG1 and reduces MOG1-enhanced INa density, thereby uncovering a novel molecular mechanism for the pathogenesis of BrS.

Research progress on fatigue in recipients of renal transplantation / 器官移植

Renal transplantation is one of the most effective treatment methods for end-stage renal diseases. However, some recipients present with fatigue symptoms after renal transplantation. Fatigue not only affects the quality of life, but also reduces the compliance of recipients with immunosuppressive agents. To strengthen the attention of medical staff to the fatigue, make early diagnosis and deliver effective interventions for renal transplant recipients, the current situation, risk factors and intervention methods of fatigue in renal transplant recipients were reviewed in this article.

Analysis of Gene Mutation and Clinical Characteristics in 19 Children with Juvenile Myelomonocytic Leukemia / 中国实验血液学杂志

OBJECTIVE@#To analyze the gene mutations of children with juvenile myelomonocytic leukemia (JMML) and their correlation with clinical characteristics.@*METHODS@#The genetic mutation results and clinical data of 19 children with JMML in Fujian from January 2015 to December 2018 were collected and analyzed retrospectively. According to the results of gene mutation, they were divided into PTPN11 gene mutation group and non-PTPN11 gene mutation group, and the clinical characteristics and prognosis of children with JMML between two groups were compared.@*RESULTS@#Among the 19 children with JMML, 14 cases were male and 5 cases were female, and male/female ratio was 2.8∶1. The median age at diagnosis was 13(3-48) months, and 14 cases (73.68%) were less than 2 years old. Abdominal distension and pyrexia were the common initial symptoms, and all the children with JMML had splenomegaly. The median white blood cell count was 39.82(4.53-103.4)×10@*CONCLUSION@#JMML is more common in male infancy and toddlerhood, and the main gene mutation types are PTPN11 and Ras mutations. Because the JMML children with PTPN11 mutations show particularly rapid disease progression, if there is no timely intervention, most children die in a short period of time. Therefore, early HSCT may improve the prognosis of the children with JMML.

Abirritation of Discogenic Pain Model in SD Rats by Paravertebral Ozone Injection / 中山大学学报(医学科学版)

@#【Objective】To investigate the analgesic and degenerated regularity of paravertebral ozone injection in the discogenic pain model of SD rats ，and to reveal the mechanism of analgesic effect of ozone preliminarily.【Methods】 Male SD rats（n = 65）were randomly divided into control group（n = 15），model group（n = 25）and ozone group（n = 25）. The L5- 6 intervertebral discs of SD rats in model group and ozone group were punctured to establish discogenic pain models. Ozone was injected paravertebrally in ozone group rats on the 22nd day after modeling. The rats in control group were normal. A quantitative allodynia assessment technique and MRI were used to detect the 50% mechanical withdrawal threshold（50%MWT）and Pfirrmann grade of L5-6 intervertebral discs at different time intervals. The expression of tumor necrosis factor-α（TNF- α）and calcitonin gene-related peptide（CGRP）in left dorsal root ganglion and sciatic nerve were detected by western blot.【Results】The 50% MWT of both hind paws were different from each other in three groups at each time after the 22nd day after modeling（P < 0.05）. In the ozone group，the 50% MWT rose on the 22nd day after modeling（left 7.6±6.8，right 3.6±1.0，P < 0.05 vs pre-ozone injection），and reached the peak on the 24th day after modeling（left 10.6±8.2，right 7.9±6.7，P < 0.05 vs pre-ozone injection），and maintained this level until the 56th day after molding. In the ozone group，the L5-6 intervertebral disc degeneration was apparently visible compared with model group（P < 0.05）. The expression of TNF- α and CGRP in dorsal root ganglion and sciatic nerve were different from each other in three groups（model>ozone>control，P < 0.05）.【conclusions】Paravertebral ozone injection can alleviate the pain of discogenic pain model rats，but aggravates the degeneration of the lumbar disc. Paravertebral ozone injection can reduce the expression of TNF-α and CGRP in the sciatic nerve and dorsal root ganglia of discogenic pain model rats.

Correlation analysis between red cell volume distribution width and the mortality rate in ARDS patients after renal transplantation / 器官移植

Objective To investigate the correlation between red cell volume distribution width (RDW) and the mortality rate of acute respiratory distress syndrome (ARDS) patients after renal transplantation. Methods Clinical data of 106 ARDS patients undergoing renal transplantation were retrospectively analyzed. According to RDW, all patients were assigned into the normal (≤15.0%, n=68) and increasing RDW groups (>15.0%, n=38). Baseline data and the incidence of adverse events were statistically compared between two groups. Kaplan-Meier survival curve was adopted to compare the 50 d-mortality rate between two groups. Cox's proportional hazards regression model was utilized to identify the risk factors of the mortality of ARDS patients. Results Among 106 patients, the 50 d-mortality rate was calculated as 43.4% (46/106). The sequential organ failure assessment (SOFA) score, serum creatinine, hemoglobin and platelet count significantly differed between two groups (all P<0.05). In the increasing RDW group, the 50 d-mortality rate and the incidence of infectious shock were significantly higher than those in the normal RDW group (both P<0.05). Kaplan-Meier survival curve demonstrated that the 50 d-mortality rate significantly differed between two groups (P<0.01). Cox's proportional hazards regression model univariate analysis revealed that hemoglobin level<100 g/L, serum creatinine>133 μmol/L, platelet count<100×109/L, severe ARDS and RDW>15.0% were the potential risk factors of the 50 d-mortality rate in ARDS patients (all P<0.05). Multivariate analysis demonstrated that severe ARDS [odd ratio (OR)=12.77, 95%confidence interval (CI) 11.63-15.39, P<0.001] and RDW>15.0% (OR=2.01, 95%CI 1.02-3.94, P<0.043) were the independent risk factors of the 50 d-mortality rate in ARDS patients. Conclusions RDW elevation is correlated with the severity of disease and 50 d-mortality rate in ARDS patients following renal transplantation. RDW can serve as a clinical parameter to predict the prognosis of ARDS patients after renal transplantation.

Endovascular stent-graft exclusion on aortic dissection and dissecting aneurysm / 中华外科杂志

<p><b>OBJECTIVE</b>To study the techniques and therapeutic effects of endovascular stent-graft exclusion in aortic dissection and dissecting aneurysm.</p><p><b>METHODS</b>The clinical data of 20 cases with aortic dissection and(or) dissecting aneurysm were analysed. Stanford A dissection was found in 2 cases, in which one had a tear entry on ascending aorta. Stanford B dissection was found in 18 cases. Five patients had two or more tear entries in different sites. Endovascular polyester-covered stent-graft exclusion was performed in all cases, of which, one case was also given fenestration and graft replacement and one subjected to Y graft bypass from ascending aorta to the left common carotid artery and left subclavian artery before endovascular stent-graft exclusion.</p><p><b>RESULTS</b>No one died in operation. One patient died of heart infarction on the third day after operation. During the followup of 1 - 20 months, 19 patients were alive well (95%). The aortic dissections and(or) dissecting aneurysms of all the patients disappeared without endoleaks and organ or limb ischemia.</p><p><b>CONCLUSION</b>Endovascular stent-graft exclusion with high successful rate, low mortality and high survival rate, is simple, safe and effective in treating aortic dissection and dissecting aneurysm.</p>

Hemodynamic changes in liver measured by multi-imaging methods before and after transjugular intrahepatic portosystemic stent-shunt / 中华放射学杂志

Objective To evaluate hemodynamic changes in liver treated by transjugular intrahepatic portosystemic stent-shunt(TIPSS)with hepatic computed tomography(CT)perfusion,Doppler ultrasound and portal vein pressure measurement,as well as the correlation among these methods.Methods Hepatic CT perfusion was performed in 9 cirrhotic patients one week before TIPSS and 72 hours after TIPSS. Intraoperative portal vein pressure was measured before and after portosystemic shunt establish.The follow- up hepatic CT perfusion were carried out in 3 cases at 3 months and 6 months postoperatively.The hemodynamic surveillance by Doppler ultrasound were performed in 48 hours and 3 months after TIPSS for 9 cases,and in 6 months after TIPSS for 6 cases.Two cases underwent venography and portal vein pressure measurement in 6 months after TIPSS treatment.Results The mean of portal vein perfusion(PVP),total hepatic blood flow(THBF),hepatic perfusion index(HPI)and portal vein free pressure(PVFP)before TIPSSwere(0.92?0.18)ml?min~(-1)?ml~(-1),(1.28?0.17)ml?min~(-1)?ml~(-1),(28?8)%,and (23.92?0.86)mmHg,respectively.In 72 hours after TIPSS,the mean of PVP,THBF,HPI and PVFP were(0.21?0.15)ml?min~(-1)?ml~(-1),(0.74?0.18)ml?min~(-1)?ml~(-1),(74 +13)%,and (12.62?1.54)mm Hg,respectively.After treatment,the mean of PVP was(0.49?0.05)ml?min~(-1)? ml~(-1)at 3 months and(0.57?0.03)ml?min~(-1)?ml~(-1)at 6 months,respectively.There was negative correlation between PVP and PVFP before TIPSS(r=0.678,P0.05).Moreover,a signifieant correlation was found between the degree of portal vein pressure decrease and portal vein perfusion decrease(r=0.867,P

Correlative study between MRI signal intensity of the lumbar intervertebral disc and collagen content in the nucleus pulposus / 中华放射学杂志

Objective To study correlation between MRI signal intensity of the lumbar intervertebral disc and collagen content in the nucleus pulposus.Methods Thirty-one cases with lumbar intervertebral disc herniation(male 21,female 10)received percutaneous lumbar disketetomy.Thirty-one specimens of nucleous pulposus were obtained from percutaneous lumbar disketctomy procedure and collagen content in them was measured with reformed hydroxyproline measurement method.The signal intensity(SI) of lumbar intervertebral disc and cerebrospinal fluid was measured in T_2 WI sagittal image and then ratio of disc SI to cerebrospinal fluid SI was calculated.The Pearson analysis was used to analyze the correlation between the collagen content and SI ratio and disc SI on T_2 WI.Results Collagen content and SI ratio were (231.0?63.5)mg/g and 0.19?0.07,respectively.There was negative correlation between them (r=-0.61,P

Experimental study on effect of dexamethasone to the in-stent restenosis after vascular intervention / 介入放射学杂志

Objective To evaluate the effect of dexamethasone to the cultured rat thoracic aortic smooth muscle cells(SMC)in vitro,and explore the role on it's prevention and cure for the in-stent restenosis after vascular intervention.Methods The rat thoracic aortic SMC were harvested and cultured for six to ten passages.The cultured SMC were synchronized and then restimulated to enter the cell cycle,and treated with incremental concentrations of dexamethasone or without dexamethasone as control.The proliferative assay was performed with MTT method in the different time points after treatment.RT-PCR was performed to assay the level of proliferating cell nuclear antigen(PCNA)mRNA.Results 1.Dexamethasone progressively inhibited rat aortic SMC proliferation in a concentration-dependent fashion.The A value was statistically significant for different concentrations(F=36.02,P＜0.001).The effect was not significant for dexamethasone concentrations either between 10~(-6)and 10~(-5)mol/L(P=0.065)or between 10~(-11)mol/L and control group(P= 0.567).2.RT-PCR suggested dexamethasone significantly decreased rat aortic SMC PCNA mRNA transcription in a concentration-dependent fashion.Statistical analysis indicated F=15.407 and P＜0.001 by ANOVA. Comparing to the control,the corrected A value was not statistically significant at 10~(-9)or 10~(-11)mol/L groups by post hoc analysis.Conclusions Dexamethasone inhibits rat aortic SMC proliferation in a concentration- dependent fashion.The data suggest that effective action concentration is 10~(-7)mol/L with persistent time up to 96 hours or more.Dexamethasone may play the inhibit role to SMC at lower concentration with prolonging action time.